Two Novel COL2A1 Mutations Associated with a Legg-Calv,-Perthes Disease-like Presentation

被引:34
作者
Kannu, Peter [1 ,2 ]
Irving, Melita [3 ]
Aftimos, Salim [4 ]
Savarirayan, Ravi [2 ]
机构
[1] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada
[2] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia
[3] Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia
[4] No Reg Genet Serv, Auckland, New Zealand
基金
英国医学研究理事会; 澳大利亚国家健康与医学研究理事会;
关键词
CALVE-PERTHES-DISEASE; CZECH DYSPLASIA; EPIPHYSEAL DYSPLASIA; STICKLER-SYNDROME; FEMORAL-HEAD; OSTEOARTHRITIS; FAMILY;
D O I
10.1007/s11999-011-1850-x
中图分类号
R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学(修复外科学)];
学科分类号
摘要
Abnormal development and growth of the capital femoral epiphysis and acetabulum are associated with a wide variety of underlying etiologies, one of which is Legg-Calv,-Perthes disease. We report the cases of two children who presented with abnormal development of both hips and in whom novel mutations in the COL2A1 gene were found. These cases illustrate the importance of identifying individuals with a type II collagen abnormality, as it informs management, allows investigation for other complications, and provides the opportunity for accurate genetic counseling and consideration of other family members who might be at risk. The literature documents numerous private mutations in COL2A1 associated with diverse clinical phenotypes including bilateral hip dysplasia and premature osteoarthritis. Some of these mutations are associated with a joint-specific phenotype but few other skeletal or extraskeletal manifestations. Only careful clinical examination of children presenting with hip anomalies therefore will reveal additional findings that warrant an evaluation by a clinical geneticist. DNA mutation analysis may be useful for making a specific diagnosis and identifying other at-risk family members. The purpose of our report is to alert clinicians to the possibility that children who present with bilateral Perthes-like disease of the hip might have an underlying mutation in the gene encoding type II collagen. It is important to consider this in the differential diagnosis and workup of such children as it has specific prognostic, clinical, genetic counseling, and reproductive sequelae.
引用
收藏
页码:1785 / 1790
页数:6
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